Canonical Allele Identifier: CA2580065454

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1916235
• ClinVar RCV Id: RCV002594427

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552851del , CM000664.2:g.202552851del	GRCh38
NC_000002.11:g.203417574del , CM000664.1:g.203417574del	GRCh37
NC_000002.10:g.203125819del	NCBI36
NG_009363.1:g.181525del , LRG_712:g.181525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1549del MANE Select	ENSP00000363708.4:p.Thr517GlnfsTer?
ENST00000638587.1:c.1480del	ENSP00000491062.1:p.Thr494GlnfsTer?
ENST00000374574.2:c.1549del	ENSP00000363702.2:p.Thr517GlnfsTer?
ENST00000374580.8:c.1549del	ENSP00000363708.4:p.Thr517GlnfsTer?
NM_001204.6:c.1549del , LRG_712t1:c.1549del	NP_001195.2:p.Thr517GlnfsTer?
XM_011511687.1:c.1549del	XP_011509989.1:p.Thr517GlnfsTer?
XM_011511688.1:c.1549del	XP_011509990.1:p.Thr517GlnfsTer?
NM_001204.7:c.1549del MANE Select	NP_001195.2:p.Thr517GlnfsTer?